帕金森病模型外显率降低

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI:10.1515/medgen-2022-2138
Vanessa A Morais, Melissa Vos
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引用次数: 0

摘要

摘要帕金森病(PD)是第二常见的神经系统疾病,其病因和进展已被广泛研究了几十年;然而,治疗方法仍然缺乏。尽管开发了几种神经毒素和动物模型来研究这种异质性疾病,但尚未完全概括PD的神经生理学和神经病理学。造成这种情况的一个潜在原因可能是帕金森病相关基因的突变降低了外显率。因此,需要寻求新的PD模型,其中需要唤起双重打击方法——需要在一个独特的模型中同时考虑遗传变化和环境因素的组合。
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Reduced penetrance of Parkinson's disease models.

The etiology and progression of Parkinson's Disease (PD), the second most prevalent neurological disorder, have been widely investigated for several decades; however, a cure is still lacking. Despite the development of several neurotoxins and animal models to study this rather heterogeneous disease, a complete recapitulation of the neurophysiology and neuropathology of PD has not been fully achieved. One underlying cause for this could be that mutations in PD-associated genes have reduced penetrance. Therefore, the quest for novel PD models is required where a double hit approach needs to be evoked - a combination of genetic alterations and environmental factors need to be accounted for in one unique model simultaneously.

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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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